Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MEF2B_chr19_19140567_19175263	19147006	CTCACCCC others(40): Show CTCACCCCTGCCCCACTGTCCCATGCTCACCTGGGGGCCCGGCTTTGG	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18989.hp1 NA18989.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0236 a0006c0010t0001g0236	1	401	0.0025	-47	c.524 others(57): Show c.524_541+29delCCAAAGCCGGGCCCCCAGGTGAGCATGGGACAGTG GGGCAGGGGTGA	p.Pro others(19): Show p.Pro175_Gly181delinsArg	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	5/9		524/1107	175/368			chr19	TogoVar
MEGF8_chr19_42320635_42383765	42333769	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	170	0.0059	0	c.351 others(5): Show c.351+1G>T		MEGF8	ENSG00000105429.13	transcript	ENST00000251268.11	protein_coding	2/41						chr19	TogoVar
METTL17_chr14_20984980_21002035	20996707	GGCAGGTA others(69): Show GGCAGGTATGGGGGGTGTGACCAAAATCAGTGGGATGTGGCAGGAAGCTG CAGCCCACGCCAGCATCTGTTTCCACA	G G	splice_acceptor_variant others(4): Show splice_acceptor_variant splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0105 a0005c0007t0001g0105	1	476	0.0021	-76	c.126 others(87): Show c.1263_1266-1delCAGGTATGGGGGGTGTGACCAAAATCAGTGGGAT GTGGCAGGAAGCTGCAGCCCACGCCAGCATCTGTTTCCACAG	p.Arg others(6): Show p.Arg422del	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	13/14	1286/1539	1263/1371	421/456		INFO_REALIGN_3_PRIME	chr14	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0094 a0005c0007t0001g0094	1	384	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del		METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4						chr2	TogoVar
MFGE8_chr15_88893683_88918379	88909773	AGCACCCC others(92): Show AGCACCCCCACATACTCACTCGTCTCACAGTGGTTGCCCGCGTAGCCCTT AAGGCACGTGCAGGTGTACGAGGGGAAGACATCTCCTCGCACTTCTTGGG	A A	stop_gained others(4): Show stop_gained splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01934.hp2 HG01934.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0215 a0009c0016t0002g0215	1	434	0.0023	-99	c.125 others(109): Show c.125_205+18delCCCAAGAAGTGCGAGGAGATGTCTTCCCCTCGTAC ACCTGCACGTGCCTTAAGGGCTACGCGGGCAACCACTGTGAGACGAGTGA GTATGTGGGGGTGC	p.Ser others(17): Show p.Ser42_Lys69delinsTer	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding	2/8		125/1164	42/387			chr15	TogoVar
MFRP_chr11_119333942_119351705	119340693	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0074 a0002c0002t0014g0074	1	315	0.0032	0	c.85 others(6): Show c.853+2T>G		MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding	13/14						chr11	TogoVar
MGAM_chr7_141990879_142111747	142008706	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp2 NA19076.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0225 a0004c0013t0001g0225	1	314	0.0032	0	c.327 others(5): Show c.327+1G>T		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	3/70						chr7	TogoVar
MGAT4D_chr4_140437262_140503293	140474812	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0251 a0002c0002t0012g0251	1	330	0.0030	0	c.525 others(5): Show c.525+1G>A		MGAT4D	ENSG00000205301.12	transcript	ENST00000511113.6	protein_coding	4/10						chr4	TogoVar
MGAT5_chr2_134249072_134459621	134338422	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0056 a0001c0001t0070g0056	1	280	0.0036	0	c.807 others(5): Show c.807+2T>A		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	6/15						chr2	TogoVar
MICALL2_chr7_1429359_1464470	1440589	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02155.hp2 HG02155.hp2	a0027 a0027	a0027c0048 a0027c0048	a0027c0048t0001 a0027c0048t0001	a0027c0048t0001g0101 a0027c0048t0001g0101	1	278	0.0036	0	c.180 others(6): Show c.1805+2T>C		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	8/16						chr7	TogoVar
MICA_chr6_31398595_31420315	31411360	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02698.hp1 HG02698.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0101 a0008c0009t0001g0101	1	438	0.0023	0	c.613 others(5): Show c.613+1G>C		MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	3/5						chr6	TogoVar
MICA_chr6_31398595_31420315	31412224	TG TG	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG01169.hp2 HG02080.hp2 others(9): Show HG00140.hp2 HG01169.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02717.hp1 HG02886.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA19030.hp1	a0009 a0012 a0009 a0012	a0009c0010 a0012c0012 a0009c0010 a0012c0012	a0009c0010t0003 a0012c0012t0003 a0009c0010t0003 a0012c0012t0003	a0009c0010t0003g0013 a0012c0012t0003g0024 a0012c0012t0003g0111 a0009c0010t0003g0013 a0012c0012t0003g0024 a0012c0012t0003g0111	12	438	0.0274	-1	c.892 others(6): Show c.892+1delG		MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
MILR1_chr17_64444115_64473643	64465543	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02738.hp1 HG04199.hp2 HG02738.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	392	0.0051	0	c.853 others(5): Show c.853+2T>C		MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	6/9						chr17	TogoVar
MIPEP_chr13_23725189_23894400	23858858	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18941.hp1 NA18989.hp2 NA18941.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0154 a0001c0001t0001g0186	2	304	0.0066	0	c.110 others(6): Show c.1106+2T>A		MIPEP	ENSG00000027001.10	transcript	ENST00000382172.4	protein_coding	10/18						chr13	TogoVar
MISP_chr19_746112_769318	751163	AGCCGGCA others(15): Show AGCCGGCAGGTGAGGCTGGGGGC	A A	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02723.hp2 NA19043.hp2 HG02723.hp2 NA19043.hp2	a0006 a0011 a0006 a0011	a0006c0014 a0011c0015 a0006c0014 a0011c0015	a0006c0014t0015 a0011c0015t0016 a0006c0014t0015 a0011c0015t0016	a0006c0014t0015g0048 a0011c0015t0016g0049 a0006c0014t0015g0048 a0011c0015t0016g0049	2	430	0.0047	-22	c.-62 others(32): Show c.-62_-58+17delGGCAGGTGAGGCTGGGGGCGCC		MISP	ENSG00000099812.9	transcript	ENST00000215582.8	protein_coding	1/5				5759	INFO_REALIGN_3_PRIME	chr19	TogoVar
MKS1_chr17_58200441_58224255	58214740	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	324	0.0031	0	c.515 others(5): Show c.515+1G>A		MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	5/17						chr17	TogoVar
MLANA_chr9_5885889_5915606	5892552	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02074.hp2 NA18972.hp1 HG02074.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0044 a0001c0001t0009g0044 a0001c0001t0001g0044 a0001c0001t0009g0044	2	422	0.0047	0	c.77+ others(4): Show c.77+1G>C		MLANA	ENSG00000120215.10	transcript	ENST00000381477.8	protein_coding	2/4						chr9	TogoVar
MMP20_chr11_102571832_102630332	102578264	ATCCGGAG others(1162): Show ATCCGGAGTAGCTGGGACTACAGGTGTGTGCCATCATTCTCAGCTAACTT TTTTGTAGAGACAGAGTTTTGCCATATTGCCCAAGCTGGTATTGAATTCC TGGGCTGAAGTGATCCTACCACCTCATCCTCCCAAAGTGCTGGAATTACA GGTGTGTGTCACTGTGCCCAACCAAGACTATGTGTATTTTAAAGATAGAA AAGGTAATCTTGACCCCGGTAGACTTTATGATCTAGCTGACTAATCGATT GAAGCTATACTTTAAAAACTTTCCATTAGGTGGCCAACATGGTGAAACTC CATCTCCACTAAAAATACAAACATTAGCTGGGCCTGGTGGCCAGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTCGAATCTGGG AGGCAGAAGTTGCAGTGAGCAGAGATCGCGCCACTGCAGTCCAGCCTGGC CACAGAGCGAGACTCCGTCTCAAAAAAAACAAAAAACAAAAAACAAAAAA CAAAAACAAAAAACAAAACACACACACACAAAAACAAAAACAAACAAACA AACAAACAAAAACTTTCCATTAGGAAAGAGAGAACTAAAATACCAGAACT TTTACAGTTACTCTTTCTAGTGGACAATCTGTTTAGATAAACTTATGAAA GGACCTAAGACCAAATATAAAAACCAAGGACTCCCACTTGGAAATCCACT TTCTGTTGTGTTAAAGCAAAGCCAAGATTTCTTATGATAGTTTTCATGAA GAAAGTTTTCAGTGGAAACACTTACCATTTAATTCTACAGCAGCATCGAT TTGGCCATTTACTCCTGAAAATTCTTCTTCAGTATTCTTTGGATAGTCTT TTTCCATTTTCCTTTTCCTTTCGTCGTAGCTAGAAAAAGTATTATTTCAT AAATAATATTACTAAGAGGTTTTTACTGGTTGTAGATGACACTATACTGG TCAGGCATATGGACACATAACTTATTTAGGTGTTCCTCTCTCTCTCTGTT TCACATACACATACACATGCATTTATGTTGTTATTTATTTTTTCTTTGTT GTGTTTTTGTTTTTTTTTTGAGATGGGGTCTCACTGTTGCCCAGGCTGAA GTGTAGTGGTGCCATCATGGCTCACCACTGCCTTGACCTTCCAGGCTCAA GCGATCCTCCTGTCTCAGCC	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0190 a0014c0015t0001g0190	1	444	0.0023	-1169	c.124 others(17): Show c.1248-291_1351+774del		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	9/10						chr11	TogoVar
MMP27_chr11_102686487_102710769	102702969	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0105 a0007c0009t0001g0105	1	456	0.0022	0	c.490 others(5): Show c.490+1G>A		MMP27	ENSG00000137675.5	transcript	ENST00000260229.5	protein_coding	3/9						chr11	TogoVar
MOK_chr14_102223836_102310164	102263544	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG01099.hp1 HG01257.hp1 others(13): Show HG00140.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02145.hp2 HG02602.hp2 HG02698.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG04199.hp1 NA21309.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0004 a0002c0006t0006 a0002c0006t0002 a0002c0006t0004 a0002c0006t0006	a0002c0006t0002g0002 a0002c0006t0002g0056 a0002c0006t0002g0057 others(12): Show a0002c0006t0002g0002 a0002c0006t0002g0056 a0002c0006t0002g0057 a0002c0006t0002g0058 a0002c0006t0002g0059 a0002c0006t0002g0060 a0002c0006t0002g0061 a0002c0006t0002g0062 a0002c0006t0002g0063 a0002c0006t0002g0065 a0002c0006t0002g0066 a0002c0006t0002g0067 a0002c0006t0004g0070 a0002c0006t0004g0071 a0002c0006t0006g0064	16	250	0.0640	0	c.283 others(5): Show c.283+2T>C		MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	4/11						chr14	TogoVar
MROH2A_chr2_233773330_233838418	233804548	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18992.hp2 NA18992.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0299 a0004c0010t0001g0299	1	376	0.0027	0	c.194 others(6): Show c.1944+1G>A		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	18/41						chr2	TogoVar
MROH2A_chr2_233773330_233838418	233823665	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp2 HG00609.hp1 HG00609.hp2 others(41): Show HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02257.hp2 HG02602.hp1 HG02630.hp2 HG03490.hp2 HG03516.hp2 HG04228.hp2 NA18612.hp2 NA18947.hp1 NA18954.hp2 NA18963.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19011.hp2 NA19068.hp2 NA19079.hp1 NA19088.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0006 a0010 a0012 a0013 a0027 a0034 a0035 a0054 a0055 a0058 a0059 a0075	a0001c0035 a0002c0003 a0002c0016 others(23): Show a0001c0035 a0002c0003 a0002c0016 a0004c0007 a0004c0010 a0004c0036 a0004c0123 a0006c0191 a0010c0039 a0010c0080 a0010c0106 a0012c0029 a0012c0046 a0012c0136 a0012c0137 a0013c0019 a0013c0090 a0013c0109 a0027c0141 a0034c0188 a0035c0052 a0054c0177 a0055c0116 a0058c0176 a0059c0070 a0075c0063	a0001c0035t0001 a0002c0003t0001 a0002c0016t0001 others(23): Show a0001c0035t0001 a0002c0003t0001 a0002c0016t0001 a0004c0007t0001 a0004c0010t0001 a0004c0036t0001 a0004c0123t0001 a0006c0191t0001 a0010c0039t0001 a0010c0080t0001 a0010c0106t0001 a0012c0029t0001 a0012c0046t0001 a0012c0136t0001 a0012c0137t0001 a0013c0019t0001 a0013c0090t0001 a0013c0109t0001 a0027c0141t0001 a0034c0188t0001 a0035c0052t0001 a0054c0177t0001 a0055c0116t0001 a0058c0176t0001 a0059c0070t0001 a0075c0063t0001	a0001c0035t0001g0233 a0002c0003t0001g0109 a0002c0016t0001g0294 others(41): Show a0001c0035t0001g0233 a0002c0003t0001g0109 a0002c0016t0001g0294 a0004c0007t0001g0033 a0004c0007t0001g0113 a0004c0007t0001g0162 a0004c0007t0001g0219 a0004c0007t0001g0224 a0004c0007t0001g0243 a0004c0007t0001g0273 a0004c0007t0001g0335 a0004c0010t0001g0158 a0004c0010t0001g0214 a0004c0010t0001g0299 a0004c0010t0001g0309 a0004c0010t0001g0332 a0004c0036t0001g0147 a0004c0123t0001g0198 a0006c0191t0001g0077 a0010c0039t0001g0040 a0010c0039t0001g0202 a0010c0080t0001g0312 a0010c0106t0001g0276 a0012c0029t0001g0344 a0012c0029t0001g0345 a0012c0029t0001g0352 a0012c0046t0001g0342 a0012c0046t0001g0343 a0012c0136t0001g0137 a0012c0137t0001g0284 a0013c0019t0001g0114 a0013c0019t0001g0116 a0013c0019t0001g0119 a0013c0019t0001g0301 a0013c0090t0001g0353 a0013c0109t0001g0103 a0027c0141t0001g0255 a0034c0188t0001g0056 a0035c0052t0001g0094 a0054c0177t0001g0059 a0055c0116t0001g0212 a0058c0176t0001g0048 a0059c0070t0001g0203 a0075c0063t0001g0013	44	376	0.1170	0	c.411 others(6): Show c.4113+1G>A		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	35/41						chr2	TogoVar
MROH7_chr1_54636786_54715266	54679440	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19010.hp1 NA19010.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0108 a0014c0014t0002g0108	1	378	0.0026	0	c.222 others(6): Show c.2226+1G>C		MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	12/23						chr1	TogoVar
MRPL17_chr11_6675385_6688340	6682746	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0022 a0004c0005t0002g0022	1	414	0.0024	0	c.243 others(5): Show c.243+1G>T		MRPL17	ENSG00000158042.9	transcript	ENST00000288937.7	protein_coding	2/2						chr11	TogoVar
MRPL24_chr1_156732303_156746088	156741011	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	362	0.0028	0	c.-61 others(5): Show c.-61+1G>A		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding	1/5						chr1	TogoVar
MRPL28_chr16_361969_375538	369912	AGGCCGCC others(23): Show AGGCCGCCTGCGGACCCACCTTGTCGTTGTT	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0080 a0011c0015t0001g0080	1	392	0.0026	-30	c.277 others(40): Show c.277_288+18delAACAACGACAAGGTGGGTCCGCAGGCGGCC	p.Asn others(11): Show p.Asn93_Lys96del	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	2/6		277/771	93/256			chr16	TogoVar
MRPL36_chr5_1793385_1804837	1799789	T T	TACCCGGC others(11): Show TACCCGGCCGCACGCTCTC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp2 NA19000.hp1 NA19010.hp2 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0002g0007 a0001c0001t0004g0016	85	430	0.1977	18	c.-28 others(27): Show c.-28_-13+2dupGAGAGCGTGCGGCCGGGT		MRPL36	ENSG00000171421.13	transcript	ENST00000505059.7	protein_coding	1/1						chr5	TogoVar
MRPS34_chr16_1766895_1778134	1772796	C C	CACCT CACCT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0003 a0004c0005 others(2): Show a0001c0001 a0001c0003 a0004c0005 a0005c0004 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0004c0005t0001 a0005c0004t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 a0001c0001t0005g0013 a0001c0001t0006g0014 a0001c0003t0001g0004 a0004c0005t0001g0007 a0005c0004t0001g0006 a0006c0007t0001g0011	169	434	0.3894	4	c.320 others(13): Show c.320_321+2dupAGGT		MRPS34	ENSG00000074071.15	transcript	ENST00000397375.7	protein_coding	1/2						chr16	TogoVar
MRS2_chr6_24397936_24431190	24416514	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	430	0.0023	0	c.836 others(5): Show c.836+1G>A		MRS2	ENSG00000124532.15	transcript	ENST00000378386.8	protein_coding	7/10						chr6	TogoVar
MS4A1_chr11_60450847_60475752	60460691	GTTAACAT others(1215): Show GTTAACATGAACAAGTGAATGCTAAGGAAACCCAAGATGAAGATTGAACA GAATCTTAAAATGTCTGAGCTGGAAAGGGCCGTATTAATTGCCTTCTCAC TTCAGAAATGAATAAATCATGAAAACTGATAAATAGCATTTACTACACTC TCCCTTTGTCCTAGGCACAATTACATATGTTAACTTATTTATGTCTTACA TCTCAGAGAGGGGTACTGTTCTAACTTTACAGAAGGATAAAATCGAAACT AATGCTCAGCAAAGTACAAAGAACAAGAATAGCAACAAAAATAACTATTT ATTCCAACATGGGTTCTTTGCATACATTTATTTCTTCAATAATATTTATT AAGAAGTAACTAAATCCAAAAATTATTTTAGATCCTGAACAAGAGAGAAC AAAATCTCTACTTTGATGGAACTTCCATTCTGTGGGGAAGAGACTGACAA TAAGCAATTAAATAAATAAGGTAATTTCCTACAGTGATCAATGCCGTAAA GCAATTAAGATAGGATTTTGTAAAAGACAGCAAATAGGAGTACATGTTAT AGATTGAGGGTTCAAGGTAGGCTCCTCTAGGAGCTGACATTTGAGCTACA CCTGAACAAAAAGACACTAGCCATGCACAGACCATGAGCCCAGTTAAGTG TTATAGCAGCCCACGAGATAAGAATTATTATTATTTCAATTTTACAGTTG AACCTGAGGCCCAGAGAATTTAAAGAACTTGCCCAACATCTCAGAACAAA TGGAGGAATCACTATTGAAACCTAGGCAATCTGACTCAGGAGGCCACAGT CTTATATACTGCATTAGAAAGCCTTAGAGAGCCTTTTCTTTTTCTTTGAG ACCGAGTCTCACTCTGTTACCCAGGCTGGAATGCAGTGGCATGATCTCAG CTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCC TCCCGAGTAGCTGGGATTACAGGTGCACACCAACATGCCTGGCTAATTTT TGTATTTGTAGTAGAGATGGGGTTTTGCCACGTTAGCCAGCCCGGTCTCA AACTCCTGACCTCAGGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTTGG ATTACAGGCATGAGCCACCGTGCCCGACCTAGAGAGCCTTCTTGATGTGA CTTGCACAAGGTGGCAGAGTTAGAGACAGAGAGAGGCCTGGAATCGACCC CTCCTGCTTCTACAGATAGTCCT	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG01192.hp1 HG01361.hp2 others(9): Show HG00558.hp2 HG01192.hp1 HG01361.hp2 HG01928.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp2 HG02273.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0008 a0001c0001t0008g0026	12	444	0.0270	-1222	c.-27 others(17): Show c.-279-379_-190-271del		MS4A1	ENSG00000156738.18	transcript	ENST00000345732.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
MSR1_chr8_16102881_16197651	16177885	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	328	0.0030	0	c.103 others(5): Show c.103+1G>T		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	2/9						chr8	TogoVar
MTIF3_chr13_27430643_27455564	27445072	TGAGCATT others(47): Show TGAGCATTTATCCTACCTTTTTTAGGAAGAACTGTAATCATCCCCAGTTG ATGAG	T T	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	412	0.0024	-54	c.-40 others(63): Show c.-40_-2+15delCTCATCAACTGGGGATGATTACAGTTCTTCCTAAAA AAGGTAGGATAAATGCTC		MTIF3	ENSG00000122033.15	transcript	ENST00000381120.8	protein_coding	2/5				4625		chr13	TogoVar
MTMR8_chrX_64263081_64400452	64356175	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	188	0.0053	0	c.310 others(5): Show c.310+1G>T		MTMR8	ENSG00000102043.16	transcript	ENST00000374852.4	protein_coding	3/13						chrX	TogoVar
MTUS1_chr8_17638802_17806094	17723130	AAAATAAG others(1120): Show AAAATAAGAACCAAGTCCAAATACATCTTTGGAATGAAAGAGGTATCTCA GTAAATTCACTCATTTATACACAGAAAATAGAACTCACGTTAACTGAAAA CTTTAACAAAATTCTCCTGAGTTTCAATTTTTTAGAATTAGGATTCAAGT TATATTAGTCCTATTACACAAAATCTAGCATCCAAAGATTCCACAGGAGA TAGTCTTTTGCAAAGTAAATGAAACTGAAATAATCTTTTTTTCTGATTCC AGTTAGAGTCCAAATCCCCTGGGTTGCTACTCTTAAACCTCCAAAACACC ATCACTTCAGACGATGCACTTTCGAATCCTTCATGCAAAAATATACTTTA ACACATAATTATTTCAAGAGTGTTTTTCAAAGAATTTTTTTTCTGCCAAA CTTTCAGAGCAACTCCAAGGAAGCAGTATGCCTATTTTTCCTGAAACCCC AGAAACAAAAATTCTAATTATTTGCAGAGCATTAGTTTTTCTTGTAATGA CTGTTTCCACAACCCCCGAAGTGTGATATAAAGTCGACTTACAATTGTTG CTGTAAGTGCTCAGCTCACTGTGGGTGCTGGCTATTGAGGGGGTGCTTCC TGTCCTCCGCAGCGCAGGACTTTTCAAAGATGCTTTGGATTTAGGAAGTG GTCTAGGCAAATTCACCCATGACGACTGTGCAGTTTTCAAGGATGTAGGC TTTCCTTGGGGTTTAAAAAAAACAAAAAGTTTCCAGTGCTATTCATCCCG AAAGCTGGCACTTTTTAAGCCTGTAAACTCAAACTTCTGCACTAACAACA AAGTCAAAACACAAAATGAATGTTCACAATCATGTAACTTCAGATGAAAG ATGAAAGCTTCACGCAGACATGTTTATTTTTGATCATTTAGAGGCAAGAG AGCAGAAATGATGAGGCAATTAGGATATGAGAAGTGTAGGAGTAACCCTG TCTCCTAAAGTAATTAACTCACACATGTTCTCTGAAGGAGATGATCAATC AGAATAATCATGAGAAAGCAGCTTTTGGCAAAACTGAAATAAAAAAATAA ACAAATTGATACGACCCCCCATACTGGTGACTAAAAAAAAAATAATCCAT TAGGACAATAGGCTATCATATAAGAAAT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00735.hp2 HG02004.hp1 HG02280.hp2 others(2): Show HG00735.hp2 HG02004.hp1 HG02280.hp2 HG04115.hp2 NA20805.hp1	a0009 a0039 a0009 a0039	a0009c0020 a0039c0067 a0009c0020 a0039c0067	a0009c0020t0012 a0039c0067t0012 a0009c0020t0012 a0039c0067t0012	a0009c0020t0012g0086 a0009c0020t0012g0110 a0009c0020t0012g0171 others(2): Show a0009c0020t0012g0086 a0009c0020t0012g0110 a0009c0020t0012g0171 a0009c0020t0012g0172 a0039c0067t0012g0113	5	328	0.0152	-1127	c.228 others(17): Show c.2288-424_2449+541del		MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	4/15						chr8	TogoVar
MUCL1_chr12_54849516_54863387	54854641	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	428	0.0023	0	c.58+ others(4): Show c.58+1G>T		MUCL1	ENSG00000172551.12	transcript	ENST00000308796.11	protein_coding	1/3						chr12	TogoVar
MX1_chr21_41421239_41464212	41439849	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0196	1	406	0.0025	0	c.591 others(5): Show c.591+1G>A		MX1	ENSG00000157601.15	transcript	ENST00000398598.8	protein_coding	8/16						chr21	TogoVar
MYBPC2_chr19_50427892_50471321	50437522	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02559.hp2 HG03225.hp2 HG02559.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0001g0063 a0001c0001t0001g0207	2	394	0.0051	0	c.512 others(5): Show c.512+1G>A		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	6/27						chr19	TogoVar
MYBPC2_chr19_50427892_50471321	50458755	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0268 a0003c0004t0001g0268	1	394	0.0025	0	c.250 others(6): Show c.2506+1G>A		MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	21/27						chr19	TogoVar
MYH11_chr16_15698135_15862028	15738564	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01168.hp1 HG01168.hp1	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0117 a0010c0039t0002g0117	1	296	0.0034	0	c.312 others(6): Show c.3121+1G>T		MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	24/40						chr16	TogoVar
MYO15B_chr17_75582800_75631849	75590244	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00609.hp1 HG01257.hp2 HG01258.hp1 others(11): Show HG00609.hp1 HG01257.hp2 HG01258.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02970.hp2 HG03209.hp2 HG03710.hp1 HG04228.hp2 NA18959.hp2 NA18969.hp1 NA18982.hp1 NA19086.hp2	a0008 a0010 a0011 others(4): Show a0008 a0010 a0011 a0015 a0045 a0086 a0093	a0008c0009 a0010c0029 a0010c0074 others(6): Show a0008c0009 a0010c0029 a0010c0074 a0010c0099 a0011c0016 a0015c0104 a0045c0098 a0086c0068 a0093c0106	a0008c0009t0001 a0010c0029t0001 a0010c0029t0008 others(7): Show a0008c0009t0001 a0010c0029t0001 a0010c0029t0008 a0010c0074t0001 a0010c0099t0001 a0011c0016t0001 a0015c0104t0001 a0045c0098t0004 a0086c0068t0004 a0093c0106t0001	a0008c0009t0001g0008 a0008c0009t0001g0033 a0008c0009t0001g0034 others(10): Show a0008c0009t0001g0008 a0008c0009t0001g0033 a0008c0009t0001g0034 a0008c0009t0001g0037 a0010c0029t0001g0007 a0010c0029t0008g0007 a0010c0074t0001g0038 a0010c0099t0001g0041 a0011c0016t0001g0042 a0015c0104t0001g0040 a0045c0098t0004g0036 a0086c0068t0004g0035 a0093c0106t0001g0039	14	382	0.0366	0	c.218 others(6): Show c.2186+1G>A		MYO15B	ENSG00000266714.11	transcript	ENST00000645453.3	protein_coding	1/63						chr17	TogoVar
MYO5B_chr18_49817789_50200147	49864139	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00738.hp1 HG00738.hp2 NA18979.hp2 HG00738.hp1 HG00738.hp2 NA18979.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0025 a0001c0001 a0003c0004 a0006c0025	a0001c0001t0001 a0003c0004t0003 a0006c0025t0002 a0001c0001t0001 a0003c0004t0003 a0006c0025t0002	a0001c0001t0001g0146 a0003c0004t0003g0110 a0006c0025t0002g0106 a0001c0001t0001g0146 a0003c0004t0003g0110 a0006c0025t0002g0106	3	236	0.0127	1	c.384 others(7): Show c.3843+1dupG		MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	28/39						chr18	TogoVar
NAA16_chr13_41306267_41382030	41372284	TTAGCATT others(24): Show TTAGCATTTGAAATATATTTTAGAAAAGGTAA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp2 HG03688.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0026 a0009c0008t0026	a0009c0008t0026g0078 a0009c0008t0026g0078	1	354	0.0028	-31	c.203 others(42): Show c.2032_2056+6delGCATTTGAAATATATTTTAGAAAAGGTAATA	p.Ala others(5): Show p.Ala678fs	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	16/20	2294/4285	2032/2595	678/864		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAAA_chr4_75908660_75946013	75920950	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02895.hp1 HG02896.hp1 others(1): Show HG02055.hp2 HG02895.hp1 HG02896.hp1 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0205 a0001c0006t0001g0211 a0001c0006t0001g0017 a0001c0006t0001g0205 a0001c0006t0001g0211	4	398	0.0101	0	c.839 others(5): Show c.839+1G>A		NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding	6/10						chr4	TogoVar
NAALADL1_chr11_65039818_65063553	65054453	A A	ACCAGAGG others(8): Show ACCAGAGGGTGCAACT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19065.hp1 NA19065.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0105 a0011c0012t0001g0105	1	370	0.0027	15	c.887 others(26): Show c.887+1_887+2insAGTTGCACCCTCTGG		NAALADL1	ENSG00000168060.16	transcript	ENST00000358658.8	protein_coding	5/17						chr11	TogoVar
NAT9_chr17_74765529_74781345	74771958	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01515.hp2 HG01515.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0019 a0005c0008t0019	a0005c0008t0019g0045 a0005c0008t0019g0045	1	384	0.0026	0	c.489 others(5): Show c.489+2T>C		NAT9	ENSG00000109065.12	transcript	ENST00000357814.8	protein_coding	6/6						chr17	TogoVar
NAV1_chr1_201534127_201831969	201586841	AACACAAA others(3183): Show AACACAAATTTGGAGGGTGTGAGATATACATTTCAGTTCATAGCACCTCT GAACTGTGCATCTAAAACAGTTAAGATGGTAAGTTTTAGGCTGGGCACAG TAGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCTCACTTGAG CCCAGGAATCTGAGACCAACTCTGGCAATATAGCAAGACCCGCCCCCTCA TCTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCGCACCTGTA GTCCCAGCTACACAGGAAGCTGAGGTGGGAAGAAGGCTTGAGCATGGGAA ATTGAGGCTGCAGTGAGCCACGGTTGTGCCACTGCACTCCTGCCTGGGCA ACAGAGCAAAACCCTGTCTCAAAGAAAGAAAAACAAAGATGATAAGCTTT ATGTTATGTGTAGTTTACCACATTAAAAAAAAAAAACAGAAACCTTTTAT TTTTCAAATGATACTGTCAAGAAAGTGAATAACTCAACTCAAATAATGAG AAAACATATTTGTAAATCACATATCTGACAAGGGTCTAGTATCTAGAATA CATGAAGAATGATTGCTGGACATGGTGGCTCATGTCTGTAATTCCAACAC TTTAAGAGGCCAAGGGGGGTGGGTTGTTTGAGTCCAGGAGGTTGAGACTA TCCTGGGAAACACGGCAAAACCTCATCTTTACAAAAGATGCAAAAATTAG CCAGGCATGGTGGTGTGCCTGTAGTCCTGGCTACTTGGGAGGTTGATGTG GGAGGATAGCTTGAGCCCAGGAGGCACAGGTTGCAGTGAGCCAAGATCTC ACCATTGCACTCCAGCCTGGGCAACACAGGGAGACCCTACCTCAAACAAA CAAACGAATGAACAAAAAAGAATGCTTAAAATTCAACAATAAACTCAAAT TAAAAGTAGGCAAAATATTTGAATAGATATTTATCCAAAGACAATACACA AATGGAAAATATGCACATGAAAATATGCTCAACATCAATAATCATCAGGA AAAATGCAAATTGGAACATGAGATACCACTTCCCCACAACTAGGATGGCT AAAATAAAAAAGACAGGCAGTAACAAGTGTTGACAAGGATGTGGGGAAAT TGGAACTCTCAGAGATTGTTAGTGGAAATGTAAAATGGCGCAGCAGCTTT GGAAAACAGTTTGGCAATTTCTCAAAAAGTTAAACATGGAGATGAGATAC ACTTGAGCCAGCAATTCCACTTCTAGGTATGTACTCAAGAGATATACTCA AGAGAGTTGAAGACATATGTACACAAATGTTCATAGCAGCAAAATTCATA ATAGCCAAAAAAGTGGAAATAAGCTAATGAGTGATAAATGGATGAACAAA AATGTGATATATCATACAGTGGAATCTTATTCGGCTGTAAAAAGGAATGA GGTGCTGACACATGCTCCAACATGGATAAATCTTGAAAACATCTTGCTAA GTGAAAAAAGCCATACACAAAAGCCCACGTATTGTATGATTTTATTCATA TGAGTTTTTGTTTGTTTGTTTTTAAGAGATAGGGTCTTGCTCTGCTGCCC AGGCTGGAGTGCAGTGACACAATCATAGCTCACTGCAGCCTCAAACTCCT GGGCTCAAGCGATCCTCCCACCTCAGCTTCCTGAGTAGCTAGGACTACAG GTAGGTGCCACCACACCCAGCTGATTAATTTTTTTTTTTTTTTTGTAGAG ACAGAGTCTTGCTATGTTGCCCGGGCTGGTCTGAACTCCTAGCCTCAAGT GATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA CACACCCAGGTATGAGTTTTGGCTAATCCACAGGGACAGAAAGTAAATTA GGGGTTGGTAGGGCTGGGGACAGGAAAAATAGGGAGTGACAACTATTAGT TATGGGTTTCTTTTGTTGATGGTGAAAATGTTTTGAGATTAGTAGTGATG GTTGCATACTTAGTGAGTATACTAAAAACAAATCAATTGTACAATTTAAA AGATTGGATTTTTTTTTTCTTTTTTGAAATGGAGTCTCGCTCTATCACCC AGGCTGGAGTGCAGTGGCATGATCTTGGTTCACTGCAACCTCTGCCTCCT GGGTTCAAGCAATTCTCTTGTCTCAGCCTCCTGAGTAGCTGGGACTACAG GCACACACCACCACGCCCAGCTCATTTTTGTATTTTTAGTAAAGACAGTG TTTCATCATATCGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCC ACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCA CCCGGCCCAAAAGTTTGGATTTTATTATATTTGAATCATATCTCCATTTT TTAGAAAGAAATCTATTCAGCCCCACACTTCTCTAACTTATTTGAATATG GAGCCTTTTTACCCCAGAGCACCCATTAACATGCAGCAGAAACAGAGTTA AAAATAGAGAACGGTTGAAAATTCCCATGTTACAGATAGGGAAAGGAGAA GCAAATTGTCATCTTTGCCTCAATTTCCTCATCCATAAAATGGGGATAGT AATATTTAGTACCGTGTAGGGAAATGTTAAATTAAGTTAATATGTGTAAA GCACTTAAGCTAATGCCTGCTCAGTAAATGTTGAATAAAGTGTTTTTTTG TTTTGTTTTTCGTTTTTTTGAGAAGAGGCCTTACTCAGTCTCCTAGGCTG AAGTGAAGTGGCATGATCTTGGCTCACTGCAGCCTCTGCCTCCTGAACTT GATTGATCCTCCCACCTCAGCCTCCTGTGTAGCTGGGACCACAGGCGCAC ACCACCACTCCTGGTTATTTCTTGTATTTTTAGTAGAGACAGAGTTTTGC CATGTTGATCAGGCTTATCTCGAACTCCTGGGCTCATGTGATCTGCCTGC CTTGGCCTCCCGAAGAGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGC CTGTTATTTGTTATTGTCTGAGCACATATTATGGGATGACCCCAAAGTTA TGTTATGTAGCTTGATTCTCACAACCATCCCATGGGGAAGACATTTTTCT TTTTTCTTTCTTTTGTTTTTGAGATGGATTCTCGCTTTGTCACCCTGGTT GGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTTCGGCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGGATT	A A	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0021 a0001c0001t0082g0021	1	208	0.0048	-3190	c.-14 others(18): Show c.-143-1694_-33+1385del		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBEAL1_chr2_203009875_203230194	203136775	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0058 a0001c0001t0035g0058	1	290	0.0034	0	c.456 others(6): Show c.4565+1G>A		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	29/55						chr2	TogoVar
NBPF11_chr1_148097151_148157281	148143413	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02615.hp1 HG02818.hp2 HG02615.hp1 HG02818.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0011 a0003c0015t0011	a0003c0015t0011g0034 a0003c0015t0011g0035 a0003c0015t0011g0034 a0003c0015t0011g0035	2	386	0.0052	0	c.-27 others(6): Show c.-277+2T>G		NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	2/23						chr1	TogoVar
NBPF3_chr1_21435137_21489900	21474942	TGTCTCCC others(2): Show TGTCTCCCAG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01099.hp1 HG01106.hp2 HG01346.hp1 others(17): Show HG01099.hp1 HG01106.hp2 HG01346.hp1 HG01358.hp2 HG01975.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp2	a0004 a0022 a0004 a0022	a0004c0004 a0004c0018 a0022c0028 a0004c0004 a0004c0018 a0022c0028	a0004c0004t0005 a0004c0018t0005 a0022c0028t0007 a0004c0004t0005 a0004c0018t0005 a0022c0028t0007	a0004c0004t0005g0013 a0004c0004t0005g0022 a0004c0004t0005g0060 others(14): Show a0004c0004t0005g0013 a0004c0004t0005g0022 a0004c0004t0005g0060 a0004c0004t0005g0061 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064 a0004c0004t0005g0175 a0004c0004t0005g0176 a0004c0004t0005g0177 a0004c0004t0005g0178 a0004c0004t0005g0179 a0004c0004t0005g0180 a0004c0004t0005g0181 a0004c0004t0005g0182 a0004c0018t0005g0183 a0022c0028t0007g0225	20	392	0.0510	-9	c.986 others(18): Show c.986_992+2delCTCCCAGGT	p.Ser others(5): Show p.Ser329fs	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	8/15	1337/3767	986/1902	329/633		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF9_chr1_149047186_149108551	149059699	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0186 a0002c0002t0033g0186	1	342	0.0029	0	c.258 others(6): Show c.2585+1G>A		NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	25/29						chr1	TogoVar

Search by Variant

Search

Search Results